Chisnoiu Tatiana, Balasa Adriana Luminita, Mihai Larisia, Lupu Ancuta, Frecus Corina Elena, Ion Irina, Andrusca Antonio, Pantazi Alexandru Cosmin, Nicolae Maria, Lupu Vasile Valeriu, Ionescu Constantin, Mihai Cristina Maria, Cambrea Simona Claudia
Department of Pediatrics, Faculty of General Medicine, "Ovidius" University, 900470 Constanta, Romania.
Pediatrics, County Clinical Emergency Hospital of Constanta, 900591 Constanta, Romania.
Diagnostics (Basel). 2023 Jul 4;13(13):2271. doi: 10.3390/diagnostics13132271.
Neonatal diabetes mellitus is a rare genetic disease that affects 1 in 90,000 live births. The start of the disease is often before the baby is 6 months old, with rare cases of onset between 6 months and 1 year. It is characterized by low or absent insulin levels in the blood, leading to severe hyperglycemia in the patient, which requires temporary insulin therapy in around 50% of cases or permanent insulin therapy in other cases. Two major processes involved in diabetes mellitus are a deformed pancreas with altered insulin-secreting cell development and/or survival or faulty functioning of the existing pancreatic beta cell. We will discuss the cases of two preterm girls with neonatal diabetes mellitus in this research. In addition to reviewing the literature on the topic, we examined the different mutations, patient care, and clinical outcomes both before and after insulin treatment.
新生儿糖尿病是一种罕见的遗传疾病，每90000例活产中就有1例受其影响。该病通常在婴儿6个月前发病，6个月至1岁之间发病的情况罕见。其特征是血液中胰岛素水平较低或缺乏，导致患者严重高血糖，约50%的病例需要临时胰岛素治疗，其他病例则需要永久胰岛素治疗。糖尿病涉及的两个主要过程是胰腺畸形，胰岛素分泌细胞发育和/或存活改变，和/或现有胰腺β细胞功能异常。在本研究中，我们将讨论两名患有新生儿糖尿病的早产女孩的病例。除了回顾该主题的文献外，我们还研究了胰岛素治疗前后的不同突变、患者护理及临床结果。
